• Gene id: 1295

Gene Summary

• Gene Symbol: COL8A1   Gene   UCSC   Ensembl
• Aliases: C3orf7
• Gene name: collagen type VIII alpha 1 chain
• Alternate names: collagen alpha-1(VIII) chain, cell proliferation-inducing protein 41, collagen VIII, alpha-1 polypeptide, collagen, type VIII, alpha 1, endothelial collagen, smag-64, smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64,
• Gene location: 3q12.1 (99638593: 99799216)     Exons: 5     NC_000003.12
• Gene summary(Entrez): This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrime
• OMIM: 120251

Protein Summary

• Protein general information: P27658  
  • Name: Collagen alpha 1(VIII) chain (Endothelial collagen) [Cleaved into: Vastatin]
  • Length: 744  
  • Mass: 73364
  • Tissue specificity: Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair folli
• Sequence:

  MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPHMPLAKDGLAMGKEMP
  HLQYGKEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQGPRGEPGPRGPPGPPGLPGHGIPGIKGKPG
  PQGYPGVGKPGMPGMPGKPGAMGMPGAKGEIGQKGEIGPMGIPGPQGPPGPHGLPGIGKPGGPGLPGQPGPKGDR
  GPKGLPGPQGLRGPKGDKGFGMPGAPGVKGPPGMHGPPGPVGLPGVGKPGVTGFPGPQGPLGKPGAPGEPGPQGP
  IGVPGVQGPPGIPGIGKPGQDGIPGQPGFPGGKGEQGLPGLPGPPGLPGIGKPGFPGPKGDRGMGGVPGALGPRG
  EKGPIGAPGIGGPPGEPGLPGIPGPMGPPGAIGFPGPKGEGGIVGPQGPPGPKGEPGLQGFPGKPGFLGEVGPPG
  MRGLPGPIGPKGEAGQKGVPGLPGVPGLLGPKGEPGIPGDQGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPG
  PPGFPGIGKPGVAGLHGPPGKPGALGPQGQPGLPGPPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHA
  YGAKKGKNGGPAYEMPAFTAELTAPFPPVGAPVKFNKLLYNGRQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVW
  VALFKNNEPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPSEQAAGLYAGQYVHSSFSGYLLYPM

• Structural information:
  • Protein Domains: (611..74-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR008983  
  • Prosite: PS50871
  • STRING: ENSP00000261037
• Other Databases: GeneCards:  COL8A1  Malacards:  COL8A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005591	collagen type VIII trimer	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0035987	endodermal cell differentiation	IEP	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)